Rare Disease Library

Oxoglutaric aciduria

Alpha-ketoglutarate dehydrogenase deficiency

Pentosuria

Essential pentosuria · Xylitol dehydrogenase deficiency

Primary hyperoxaluria type 2

D-glycerate dehydrogenase deficiency · L-glyceric aciduria

Pyruvate dehydrogenase deficiency

PDH · PDHC

Pyruvate dehydrogenase E1-alpha deficiency

PDHAD · Pyruvate decarboxylase deficiency

Pyruvate dehydrogenase E1-beta deficiency

PDHBD · Pyruvate dehydrogenase complex E1 component subunit beta deficiency

Pyruvate dehydrogenase E2 deficiency

Dihydrolipoamide acetyltransferase component of pyruvate dehydrogenase complex deficiency · Dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex deficiency

Pyruvate dehydrogenase E3 deficiency

DLD deficiency · Dihydrolipoamide dehydrogenase deficiency

Pyruvate dehydrogenase E3-binding protein deficiency

2-oxoglutarate complex deficiency · Branched chain alpha-ketoacid dehydrogenase complex deficiency

Pyruvate dehydrogenase phosphatase deficiency

PDH phosphatase deficiency

Recurrent infections associated with rare immunoglobulin isotypes deficiency

IgG subclass deficiency with IgA subclass deficiency · Isolated IgG subclass deficiency

Saccharopinuria

Hyperlysinemia type II · Saccharopine dehydrogenase deficiency

Sarcosinemia

Sarcosine dehydrogenase complex deficiency

Short chain acyl-CoA dehydrogenase deficiency

ACADS deficiency · SCAD deficiency

Succinic semialdehyde dehydrogenase deficiency

4-hydroxybutyric aciduria · Gamma-hydroxybutyric aciduria

Very long chain acyl-CoA dehydrogenase deficiency

VLCAD deficiency · VLCADD

Xanthinuria type I

XDH deficiency · XO deficiency